APC intragenic haplotypes in familial adenomatous polyposis

Clinical Genetics

Volumn 50, Issue 6, 1996, Pages 483-485

  Almeida, Rosário ^a   Morton, Newton ^b   Fidalgo, Paulo ^c   Leitão, Nobre ^c   Mira, Costa ^c   Rueff, José ^a   Monteiro, Carolino ^a  

^a NOVA MEDICAL SCHOOL   (Portugal)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c Department of Gastroenterology   (Portugal)

Author keywords

APC; FAP; Founder effect; Gametic disequilibrium; Genetic epidemiology; Portuguese population

Indexed keywords

ALLELE; ARTICLE; COLON POLYPOSIS; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PORTUGAL; PRIORITY JOURNAL;

EID: 0030453376     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02717.x     Document Type: Article

References (12)

1. Almeida R, Fidalgo P, Ramalho E, Brás A, Leitào N, Mira C, Rueff J, Monteiro C. Presymplomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)n flanking markers by fluorescence-based semi-automated DNA analysis. J Med Genet 1996: 33: 244-247.
2. Cottrell S, Bodmer WF. Two MspI polymorphisms within the APC gene. Hum Molec Genet 1991: 1: 352.
3. Delhanty JDA, Tsioupra K. Haplotype comparison in fresh mutation cases of adenomatous polyposis coli due to deletion AAAGA at codon 1309. Ann Hum Genet 1995: 59: 39-42.
4. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991: 66: 589-600.
5. Heighway J, Hoban PR, Wyllie AH. Sspl polymorphism in sequence encoding 3' untranslated region of the APC gene. Nucl Acids Res 1991: 19: 6966.
6. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, Groden J, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991: 66: 601-613.
7. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finnicar R, Markham A, Groffen J, Boguski MS, Altschul SF, Horii A, Miyoshi Y, Miki Y, Nishisho I, Nakamura Y. Identification of FAP locus genes from chromosome 5q21. Science 1991: 253: 661-665.
8. Kraus C, Ballhausen WG. Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion. Hum Genet 1992: 88: 705-706.
9. Morris A, Morton NE, Collins A, Lawrence. Macpherson JN. Evolutionary dynamics of the FMR1 locus. Ann Hum Genet 1995: 59: 283-289.
10. Morton NE, Wu D. Alternative bioassays of kinship between loci. Am J Hum Genet 1988: 42: 173-177.
11. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P, Markham A, Krush A J, Petersen G, Hamilton SR, Nilbert MC, Levy DB, Bryan TM, Preisinger AC, Smith KJ, Su L-K, Kinzler KW, Vogelstein B. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991: 253: 665-669.
12. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning. A laboratory manual. New York: Cold Spring Harbor Laboratory Press, 1989.